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Results:
1-13
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Results: 13
Authors:
Heiss, NS
Megarbane, A
Klauck, SM
Kreuz, FR
Makhoul, E
Majewski, F
Poustka, A
Citation: Ns. Heiss et al., One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC), GEN COUNSEL, 12(2), 2001, pp. 129-136
Authors:
Seranski, P
Hoff, C
Radelof, U
Hennig, S
Reinhardt, R
Schwartz, CE
Heiss, NS
Poustka, A
Citation: P. Seranski et al., RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients, GENE, 270(1-2), 2001, pp. 69-76
Authors:
Heiss, NS
Bachner, D
Salowsky, R
Kolb, A
Kioschis, P
Poustka, A
Citation: Ns. Heiss et al., Gene structure and expression of the mouse dyskeratosis congenita gene, Dkc1, GENOMICS, 67(2), 2000, pp. 153-163
Authors:
Aradhya, S
Ahobila, P
Lewis, RA
Nelson, DL
Esposito, T
Ciccodicola, A
Bardaro, T
D'Urso, M
Woffendin, H
Kenwrick, S
Smahi, A
Heuertz, S
Munnich, A
Heiss, NS
Poustka, A
Chishti, AH
Citation: S. Aradhya et al., Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2, AM J MED G, 94(1), 2000, pp. 79-84
Authors:
Aradhya, S
Nelson, DL
Heiss, NS
Poustka, A
Woffendin, H
Kenwrick, S
Esposito, T
Ciccodicola, A
Bardaro, T
D'Urso, M
Smahi, A
Munnich, A
Herman, GE
Lewis, RA
Citation: S. Aradhya et al., Human homologue of the murine Bare patches/Striated gene is not mutated inIncontinentia Pigmenti type 2, AM J MED G, 91(3), 2000, pp. 241-244
Authors:
Yaghmai, R
Kimyai-Asadi, A
Rostamiani, K
Heiss, NS
Poustka, A
Eyaid, W
Bodurtha, J
Nousari, HC
Hamosh, A
Metzenberg, A
Citation: R. Yaghmai et al., Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome, J PEDIAT, 136(3), 2000, pp. 390-393
Authors:
Heiss, NS
Girod, A
Salowsky, R
Wiemann, S
Pepperkok, R
Poustka, A
Citation: Ns. Heiss et al., Dyskerin localizes to the nucleolus and its mislocalization is unlikely toplay a role in the pathogenesis of dyskeratosis congenita, HUM MOL GEN, 8(13), 1999, pp. 2515-2524
Authors:
Seranski, P
Heiss, NS
Dhorne-Pollet, S
Radelof, U
Korn, B
Hennig, S
Backes, E
Schmidt, S
Wiemann, S
Schwarz, CE
Lehrach, H
Poustka, A
Citation: P. Seranski et al., Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: Identification of 53 transcriptional units and new candidate genes, GENOMICS, 56(1), 1999, pp. 1-11
Authors:
Heiss, NS
Poustka, A
Knight, SW
Aradhya, S
Nelson, DL
Lewis, RA
Esposito, T
Ciccodicola, A
D'Urso, M
Smahi, A
Heuertz, S
Munnich, A
Vabres, P
Woffendin, H
Kenwrick, S
Citation: Ns. Heiss et al., Mutation analysis of the DKC1 gene in incontinentia pigmenti, J MED GENET, 36(11), 1999, pp. 860-862
Authors:
Knight, SW
Heiss, NS
Vulliamy, TJ
Aalfs, CM
McMahon, C
Richmond, P
Jones, A
Hennekam, RCM
Poustka, A
Mason, PJ
Dokal, I
Citation: Sw. Knight et al., Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1, BR J HAEM, 107(2), 1999, pp. 335-339
Authors:
Vulliamy, TJ
Knight, SW
Heiss, NS
Smith, OP
Poustka, A
Dokal, I
Mason, PJ
Citation: Tj. Vulliamy et al., Dyskeratosis congenita caused by a 3 ' deletion: Germline and somatic mosaicism in a female carrier, BLOOD, 94(4), 1999, pp. 1254-1260
Authors:
Knight, SW
Heiss, NS
Vulliamy, TJ
Greschner, S
Stavrides, G
Pai, GS
Lestringant, G
Varma, N
Mason, PJ
Dokal, I
Poustka, A
Citation: Sw. Knight et al., X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene, AM J HU GEN, 65(1), 1999, pp. 50-58
Authors:
Kioschis, P
Wiemann, S
Heiss, NS
Francis, F
Gotz, C
Poustka, A
Taudien, S
Platzer, M
Wiehe, T
Beckmann, G
Weber, J
Nordsiek, G
Rosenthal, A
Citation: P. Kioschis et al., Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1), GENOMICS, 54(2), 1998, pp. 256-266
Risultati:
1-13
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